Objective: Chronic granulomatous disease (CGD) is a rare genetic disease of phagocytic system. Affected patients commonly present with bacterial infections associated with pneumonia, abscesses and lymphadenitis. In this study, we investigated the clinical and laboratory findings of our CGD patients.

Materials and Methods: The demographic data (age at diagnosis, initial presenting symptoms, family history, follow-up period), mutation analysis, therapy options, complications, radiological findings and prognosis were evaluated retrospectively.

Results: Among nine CGD patients, autosomal recessive form was detected in four of them. The age at onset was statistically lower in X` linked CGD patients than autosomal recessive form (11.2 ± 7.6 month vs. 43.5 ± 21.5 month; p= 0.001). Respiratory tract infections (sinusitis, otitis, pneumonia) and recurrent abscesses were more commonly seen at onset. Microbiological culture revealed Aspergillus fumigatus from lung biopsy in one patient and Serratia marcescens from blood specimen in the another patient. BCGitis was observed in one patient and five patients received anti-tuberculosis therapy. Non-infectious complications were granulomatous uveitis, recurrent pericardial effusion, skin granuloma, noduler formation in lung and brain area.

Conclusion: Due to high rate of consanguinity, autosomal recessive inheritance was observed highly in our patient cohort. Since, patients with CGD are susceptible to tuberculosis and BCG complications; initiation of tuberculosis prophylaxis is advisable in countries where BCG is still administrated at birth.